Canonical Allele Identifier: CA407964265
Gene: SLC52A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.765539A>C , CM000682.2:g.765539A>C GRCh38
NC_000020.10:g.746183A>C , CM000682.1:g.746183A>C GRCh37
NC_000020.9:g.694183A>C NCBI36
NG_027687.1:g.8046T>G
NG_027687.2:g.15447T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.236T>G ENSP00000371370.3:p.Leu79Arg
ENST00000473664.2:c.236T>G ENSP00000502741.1:p.Leu79Arg
ENST00000488495.3:c.236T>G ENSP00000494009.1:p.Leu79Arg
ENST00000645534.1:c.236T>G MANE Select ENSP00000494193.1:p.Leu79Arg
ENST00000675066.1:c.236T>G ENSP00000501902.1:p.Leu79Arg
ENST00000676154.1:c.236T>G ENSP00000501807.1:p.Leu79Arg
ENST00000217254.11:c.236T>G ENSP00000217254.7:p.Leu79Arg
ENST00000381944.4:c.236T>G ENSP00000371370.3:p.Leu79Arg
ENST00000473664.1:n.287T>G
ENST00000632431.1:c.236T>G ENSP00000488723.1:p.Leu79Arg
NM_033409.3:c.236T>G NP_212134.3:p.Leu79Arg
XM_005260655.3:c.236T>G XP_005260712.1:p.Leu79Arg
XM_011529148.1:c.236T>G XP_011527450.1:p.Leu79Arg
XM_005260655.4:c.236T>G XP_005260712.1:p.Leu79Arg
XM_024451821.1:c.236T>G XP_024307589.1:p.Leu79Arg
NM_033409.4:c.236T>G MANE Select NP_212134.3:p.Leu79Arg
NM_001370085.1:c.236T>G NP_001357014.1:p.Leu79Arg
NM_001370086.1:c.236T>G NP_001357015.1:p.Leu79Arg